Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Cognitive impairment (HP:0100543)

Parent Node:
Memory impairment (HP:0002354)

..Starting node
..Progressive forgetfulness (HP:0007017)

Term ID:

7017

Name:

Progressive forgetfulness

Synonym:

Forgetfullness

Definition:

Comments:

Reference:

HP:0007017

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deficit in phonologic short-term memory (HP:0002549)

Transient global amnesia (HP:0010534)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007017	HP:0007017	Progressive forgetfulness	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0007017	HP:0007017	Progressive forgetfulness	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56

Genes (2) :PRNP TREX1

Diseases (2) :ORPHA:282166 OMIM:192315

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.